Jennifer M Chang-Wolf, Laurenz J B Pauleikhoff, Chabelie Ruiters, Annette C Moll, Reinier O Schlingemann, Elon H C van Dijk, Roselie M H Diederen, Camiel J F Boon
Purpose: This report evaluates the association of three distinct leakage patterns of choroidal vascular hyperpermeability (CVH) on indocyanine green angiography (ICGA), previously correlated with disease chronicity, with retinal sensitivity measured by microperimetry in central serous chorioretinopathy (CSC): unifocal indistinct signs of hyperpermeability (uni-FISH), multifocal (multi-FISH), and diffuse (DISH).
Methods: The CERTAIN study is a retrospective analysis of consecutive CSC patients referred to a tertiary centre between 01/09/2021 and 30/11/2022. Patients underwent ultra-widefield (UWF) and 55° ICGA plus comprehensive multimodal imaging, including microperimetry. Two independent graders assessed CVH patterns on UWF and 55° ICGA. In case of disagreement, a third grader adjudicated. Eyes with CVH and mesopic microperimetry data were included.
Results: In total, 154 eyes from 91 CSC patients were included. On UWF ICGA, DISH showed lower macular sensitivity than the uni-FISH reference (-2.61 dB, p = 0.047). Sensitivity was also lower (-2.24 dB, p = 0.03) when comparing DISH to a combined uni- and multi-FISH group (FISH). On 55° ICGA, DISH again showed lower sensitivity versus uni-FISH (-3.13 dB, p = 0.01) and the FISH group (-2.82 dB, p = 0.010).
Conclusions: The CVH patterns of uni-FISH, multi-FISH, and DISH demonstrate a marked association with levels of retinal sensitivity in CSC patients, particularly macular sensitivity, which is lower in DISH compared to (uni-)FISH. Our findings highlight the potential role of ICGA patterns in assessing disease severity and functional prognostication.
目的:本报告评估了三种不同的脉络膜血管高渗透性(CVH)渗漏模式在吲哚青绿血管造影(ICGA)上的相关性,这些渗漏模式先前与疾病的慢性性相关,并与中心性浆液性脉络膜视网膜病变(CSC)的显微视力测量的视网膜敏感性相关:单灶性不明显的高渗透性征象(uni-FISH)、多灶性(multi-FISH)和弥漫性(DISH)。方法:CERTAIN研究是对在2021年9月1日至2022年11月30日期间转诊至三级中心的连续CSC患者的回顾性分析。患者接受超宽视场(UWF)和55°ICGA加综合多模态成像,包括显微视野检查。两名独立评分者评估了UWF和55°ICGA的CVH模式。如果意见不一致,由三年级学生裁决。包括有CVH和介观显微镜数据的眼睛。结果:共纳入91例CSC患者的154只眼。在UWF ICGA上,DISH的黄斑敏感性低于uni-FISH参考(-2.61 dB, p = 0.047)。与单和多FISH联合组(FISH)相比,DISH的敏感性也较低(-2.24 dB, p = 0.03)。在55°ICGA上,DISH再次显示出比uni-FISH组(-3.13 dB, p = 0.01)和FISH组(-2.82 dB, p = 0.010)更低的敏感性。结论:单-FISH、多-FISH和DISH的CVH模式与CSC患者视网膜敏感性水平显著相关,特别是黄斑敏感性,DISH的黄斑敏感性低于(单-)FISH。我们的研究结果强调了ICGA模式在评估疾病严重程度和功能预后方面的潜在作用。
{"title":"Choroidal vascular hyperpermeability patterns in central serous chorioretinopathy correlate with microperimetry: CERTAIN study report 4.","authors":"Jennifer M Chang-Wolf, Laurenz J B Pauleikhoff, Chabelie Ruiters, Annette C Moll, Reinier O Schlingemann, Elon H C van Dijk, Roselie M H Diederen, Camiel J F Boon","doi":"10.1111/aos.17588","DOIUrl":"https://doi.org/10.1111/aos.17588","url":null,"abstract":"<p><strong>Purpose: </strong>This report evaluates the association of three distinct leakage patterns of choroidal vascular hyperpermeability (CVH) on indocyanine green angiography (ICGA), previously correlated with disease chronicity, with retinal sensitivity measured by microperimetry in central serous chorioretinopathy (CSC): unifocal indistinct signs of hyperpermeability (uni-FISH), multifocal (multi-FISH), and diffuse (DISH).</p><p><strong>Methods: </strong>The CERTAIN study is a retrospective analysis of consecutive CSC patients referred to a tertiary centre between 01/09/2021 and 30/11/2022. Patients underwent ultra-widefield (UWF) and 55° ICGA plus comprehensive multimodal imaging, including microperimetry. Two independent graders assessed CVH patterns on UWF and 55° ICGA. In case of disagreement, a third grader adjudicated. Eyes with CVH and mesopic microperimetry data were included.</p><p><strong>Results: </strong>In total, 154 eyes from 91 CSC patients were included. On UWF ICGA, DISH showed lower macular sensitivity than the uni-FISH reference (-2.61 dB, p = 0.047). Sensitivity was also lower (-2.24 dB, p = 0.03) when comparing DISH to a combined uni- and multi-FISH group (FISH). On 55° ICGA, DISH again showed lower sensitivity versus uni-FISH (-3.13 dB, p = 0.01) and the FISH group (-2.82 dB, p = 0.010).</p><p><strong>Conclusions: </strong>The CVH patterns of uni-FISH, multi-FISH, and DISH demonstrate a marked association with levels of retinal sensitivity in CSC patients, particularly macular sensitivity, which is lower in DISH compared to (uni-)FISH. Our findings highlight the potential role of ICGA patterns in assessing disease severity and functional prognostication.</p>","PeriodicalId":6915,"journal":{"name":"Acta Ophthalmologica","volume":" ","pages":""},"PeriodicalIF":2.8,"publicationDate":"2025-09-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145074049","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Broder Poschkamp, Liane Kantz, Petra Augstein, Allam Tayar, Lars Kaderali, Martin Busch, Beathe Bohl, Sebastian Paul, Lisa Lüdtke, Marie-Christine Bründer, Daniel Schulz, Hanna Grabow, Elke Gens Dipl, Antonia Müller, Emily Martin, Wolfgang Kerner, Jörg Reindel, Andreas Stahl
Purpose: Diabetic retinopathy (DR) is a leading cause of vision loss in middle-aged adults globally. Although artificial intelligence (AI)-based screening tools like IDx-DR (classification) and Thirona RetCAD (regression) have shown high sensitivity in controlled settings, real-world screening faces challenges due to missing or low-quality images and inadequate adaptation to local healthcare needs. The objective was to compare the performance of two AI-based DR screening algorithms (IDx-DR and RetCAD) that analyse non-mydriatic images, against ophthalmologists' mydriatic fundoscopy with image analysis and the impact of customized referral threshold modification ('Greifswald modification') on screening outcomes.
Methods: This one-centre observational study included 1716 patients with diabetes mellitus (Clinical Trials Register: DRKS00035967). Sensitivity, specificity, the proportion of ungradable images and the reduction in ophthalmologic evaluations were assessed. Customized referral threshold modification was conducted using the Youden Index.
Results: In 98 patients (5.7%), no images could be acquired, and 35 patients (2.1%) had incomplete image sets for IDx-DR. IDx-DR rejected 438 patients (25.5%) due to image quality, while RetCAD flagged 134 eyes from 120 patients (6.9%) but provided output for all. Among analysable images, sensitivities ranged from 70.4% (RetCAD) to 93.6% (RetCAD with Greifswald modification). Including all patients reduced sensitivity from 52.7% (IDx-DR) to 79.9% (RetCAD with Greifswald modification). AI screening reduced ophthalmologic exam needs by 47.5% to 78.5%.
Conclusions: Real-world DR screening performance of AI algorithms, when including non-analysable patients, can be substantially lower than in controlled studies. The use of regression algorithms enabled the customization of referral thresholds, improving screening accuracy and reducing the clinical burden.
{"title":"Customizing AI-based screening with real-world data: Practical insights from diabetic retinopathy.","authors":"Broder Poschkamp, Liane Kantz, Petra Augstein, Allam Tayar, Lars Kaderali, Martin Busch, Beathe Bohl, Sebastian Paul, Lisa Lüdtke, Marie-Christine Bründer, Daniel Schulz, Hanna Grabow, Elke Gens Dipl, Antonia Müller, Emily Martin, Wolfgang Kerner, Jörg Reindel, Andreas Stahl","doi":"10.1111/aos.17591","DOIUrl":"https://doi.org/10.1111/aos.17591","url":null,"abstract":"<p><strong>Purpose: </strong>Diabetic retinopathy (DR) is a leading cause of vision loss in middle-aged adults globally. Although artificial intelligence (AI)-based screening tools like IDx-DR (classification) and Thirona RetCAD (regression) have shown high sensitivity in controlled settings, real-world screening faces challenges due to missing or low-quality images and inadequate adaptation to local healthcare needs. The objective was to compare the performance of two AI-based DR screening algorithms (IDx-DR and RetCAD) that analyse non-mydriatic images, against ophthalmologists' mydriatic fundoscopy with image analysis and the impact of customized referral threshold modification ('Greifswald modification') on screening outcomes.</p><p><strong>Methods: </strong>This one-centre observational study included 1716 patients with diabetes mellitus (Clinical Trials Register: DRKS00035967). Sensitivity, specificity, the proportion of ungradable images and the reduction in ophthalmologic evaluations were assessed. Customized referral threshold modification was conducted using the Youden Index.</p><p><strong>Results: </strong>In 98 patients (5.7%), no images could be acquired, and 35 patients (2.1%) had incomplete image sets for IDx-DR. IDx-DR rejected 438 patients (25.5%) due to image quality, while RetCAD flagged 134 eyes from 120 patients (6.9%) but provided output for all. Among analysable images, sensitivities ranged from 70.4% (RetCAD) to 93.6% (RetCAD with Greifswald modification). Including all patients reduced sensitivity from 52.7% (IDx-DR) to 79.9% (RetCAD with Greifswald modification). AI screening reduced ophthalmologic exam needs by 47.5% to 78.5%.</p><p><strong>Conclusions: </strong>Real-world DR screening performance of AI algorithms, when including non-analysable patients, can be substantially lower than in controlled studies. The use of regression algorithms enabled the customization of referral thresholds, improving screening accuracy and reducing the clinical burden.</p>","PeriodicalId":6915,"journal":{"name":"Acta Ophthalmologica","volume":" ","pages":""},"PeriodicalIF":2.8,"publicationDate":"2025-09-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145032375","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Tarcyane Barata Garcia, Nils Kossack, Marc Pignot, Mohammed Dagher, Alexander K Schuster, Kun Shi-van Wielink
Purpose: This study aimed to investigate the prevalence, healthcare resource utilization (HCRU) and associated costs of myopia in Germany, comparing mild/moderate and high myopia across various age groups using real-world data.
Methods: A retrospective cross-sectional study was conducted using data from the WIG2 benchmark database. Patients with a diagnosis of myopia (ICD-10-GM H52.1) were categorized into mild/moderate or high myopia. The study population was stratified into preschool (0-5 years), primary school (6-9 years), secondary school (10-17 years), adult (18-59 years), elderly (60-75 years) and very old (>75 years) age groups. Prevalence trends were evaluated across paediatric and adolescent subpopulations. Propensity score matching was applied to balance group differences. HCRU and associated costs were analysed for each cohort.
Results: Between 2018 and 2022, mild/moderate myopia consistently exhibited higher prevalence across all age groups compared to high myopia. Prevalence of both myopia types increased significantly with age, particularly in females, with mild/moderate myopia reaching 19.86% (95% CI 19.08-20.66) at age 17, compared to 14.00% (95% CI 13.37-14.67) in males. In 2022, individuals with high myopia had significantly higher ophthalmic HCRU and associated costs compared to those with mild/moderate myopia. The economic burden was notably higher in older age groups, with increased hospitalizations and outpatient visits. High myopia incurred higher costs across all age groups, with the largest difference in the very old cohort (€234.20).
Conclusion: This study highlights the significant clinical and economic burden of high myopia in Germany. Targeted interventions are needed to manage myopia progression and reduce healthcare costs, particularly in ageing individuals.
目的:本研究旨在调查德国近视的患病率、医疗资源利用率(HCRU)和相关成本,使用真实世界数据比较不同年龄组的轻度/中度和高度近视。方法:采用来自WIG2基准数据库的数据进行回顾性横断面研究。诊断为近视(ICD-10-GM H52.1)的患者分为轻度/中度或高度近视。研究人群分为学龄前(0-5岁)、小学(6-9岁)、中学(10-17岁)、成人(18-59岁)、老年(60-75岁)和老年(0- 75岁)年龄组。评估了儿童和青少年亚群的流行趋势。倾向评分匹配用于平衡组间差异。对每个队列的HCRU和相关费用进行分析。结果:在2018年至2022年期间,与高度近视相比,轻度/中度近视在所有年龄组中的患病率始终较高。两种近视类型的患病率都随着年龄的增长而显著增加,尤其是在女性中,17岁时轻度/中度近视达到19.86% (95% CI 19.08-20.66),而男性为14.00% (95% CI 13.37-14.67)。在2022年,高度近视患者的眼科HCRU和相关费用明显高于轻度/中度近视患者。老年群体的经济负担明显更高,住院和门诊次数增加。在所有年龄组中,高度近视的费用都较高,其中高龄人群的差异最大(234.20欧元)。结论:本研究突出了德国高度近视的重大临床和经济负担。需要有针对性的干预措施来控制近视的进展并降低医疗保健费用,特别是在老年人中。
{"title":"Epidemiology and burden of mild/moderate versus high myopia in Germany: A claims data analysis.","authors":"Tarcyane Barata Garcia, Nils Kossack, Marc Pignot, Mohammed Dagher, Alexander K Schuster, Kun Shi-van Wielink","doi":"10.1111/aos.17589","DOIUrl":"https://doi.org/10.1111/aos.17589","url":null,"abstract":"<p><strong>Purpose: </strong>This study aimed to investigate the prevalence, healthcare resource utilization (HCRU) and associated costs of myopia in Germany, comparing mild/moderate and high myopia across various age groups using real-world data.</p><p><strong>Methods: </strong>A retrospective cross-sectional study was conducted using data from the WIG2 benchmark database. Patients with a diagnosis of myopia (ICD-10-GM H52.1) were categorized into mild/moderate or high myopia. The study population was stratified into preschool (0-5 years), primary school (6-9 years), secondary school (10-17 years), adult (18-59 years), elderly (60-75 years) and very old (>75 years) age groups. Prevalence trends were evaluated across paediatric and adolescent subpopulations. Propensity score matching was applied to balance group differences. HCRU and associated costs were analysed for each cohort.</p><p><strong>Results: </strong>Between 2018 and 2022, mild/moderate myopia consistently exhibited higher prevalence across all age groups compared to high myopia. Prevalence of both myopia types increased significantly with age, particularly in females, with mild/moderate myopia reaching 19.86% (95% CI 19.08-20.66) at age 17, compared to 14.00% (95% CI 13.37-14.67) in males. In 2022, individuals with high myopia had significantly higher ophthalmic HCRU and associated costs compared to those with mild/moderate myopia. The economic burden was notably higher in older age groups, with increased hospitalizations and outpatient visits. High myopia incurred higher costs across all age groups, with the largest difference in the very old cohort (€234.20).</p><p><strong>Conclusion: </strong>This study highlights the significant clinical and economic burden of high myopia in Germany. Targeted interventions are needed to manage myopia progression and reduce healthcare costs, particularly in ageing individuals.</p>","PeriodicalId":6915,"journal":{"name":"Acta Ophthalmologica","volume":" ","pages":""},"PeriodicalIF":2.8,"publicationDate":"2025-09-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145022534","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Imadeddin Abu Ishkheidem, Esra Inci, Martin Breimer, Sofia Töyrä Silfverswärd, Madeleine Zetterberg, Marita Andersson Grönlund
Purpose: To evaluate visual, anatomical and safety outcomes of aflibercept 8 mg in previously treated patients with neovascular age-related macular degeneration (nAMD).
Methods: This retrospective study included nAMD patients switched to aflibercept 8 mg from prior anti-VEGF therapies at Sahlgrenska University Hospital between February 2024 and February 2025. Data on best-corrected visual acuity (BCVA), central retinal thickness (CRT), pigment epithelial detachment (PED) height, fluid status, treatment intervals, time to fluid recurrence and adverse events were collected.
Results: 181 eyes (167 patients; mean age 80.4 ± 8.5 years; 67.7% female) were included, with a median follow-up of 12.9 weeks (range 4.1-48.1). A total of 415 injections were administered (mean 2.1 ± 1.5 per eye). BCVA remained stable (baseline 0.46 ± 0.31 logMAR; post-treatment 0.47 ± 0.37 logMAR; p = 0.18). CRT decreased significantly (-19.5 ± 47.2 μm; p < 0.001), as did PED height (-37.4 ± 68.4 μm; p < 0.001). Intraretinal fluid prevalence decreased from 34.3% to 19.3% (p < 0.001) and subretinal fluid from 53.0% to 33.7% (p < 0.001). The median maximal dry interval achieved was nine weeks, and analysis of interval extension showed a statistically significant mean increase of 1.27 ± 4.24 weeks overall (p = 0.0009), particularly in eyes dry at baseline. The median time to fluid recurrence among those with reactivation was ten weeks. Higher baseline CRT predicted greater CRT reduction (-44.1 μm per 100 μm increase; p < 0.001) but shorter dry intervals. Safety was favourable, with one case (0.6% per eye; 0.2% per injection) of mild anterior uveitis and no cases of intraocular pressure elevation.
Conclusions: Switching to aflibercept 8 mg led to stable vision, significant anatomical improvements, extended treatment intervals and a favourable short-term safety profile. Longer follow-up is warranted.
目的:评价阿非利赛普8mg治疗新生血管性年龄相关性黄斑变性(nAMD)患者的视觉、解剖学和安全性结果。方法:这项回顾性研究纳入了2024年2月至2025年2月期间在Sahlgrenska大学医院接受抗vegf治疗的nAMD患者。收集最佳矫正视力(BCVA)、视网膜中央厚度(CRT)、色素上皮脱离(PED)高度、液体状态、治疗间隔、液体复发时间和不良事件的数据。结果:纳入181只眼(167例患者,平均年龄80.4±8.5岁,67.7%为女性),中位随访时间12.9周(范围4.1-48.1)。共注射415次(平均每眼2.1±1.5次)。BCVA保持稳定(基线0.46±0.31 logMAR;治疗后0.47±0.37 logMAR; p = 0.18)。结论:改用阿非利西普8mg后视力稳定,解剖结构明显改善,治疗间隔延长,短期安全性较好。需要更长的随访时间。
{"title":"Real-world outcomes of aflibercept 8 mg in patients previously treated for neovascular age-related macular degeneration.","authors":"Imadeddin Abu Ishkheidem, Esra Inci, Martin Breimer, Sofia Töyrä Silfverswärd, Madeleine Zetterberg, Marita Andersson Grönlund","doi":"10.1111/aos.17590","DOIUrl":"https://doi.org/10.1111/aos.17590","url":null,"abstract":"<p><strong>Purpose: </strong>To evaluate visual, anatomical and safety outcomes of aflibercept 8 mg in previously treated patients with neovascular age-related macular degeneration (nAMD).</p><p><strong>Methods: </strong>This retrospective study included nAMD patients switched to aflibercept 8 mg from prior anti-VEGF therapies at Sahlgrenska University Hospital between February 2024 and February 2025. Data on best-corrected visual acuity (BCVA), central retinal thickness (CRT), pigment epithelial detachment (PED) height, fluid status, treatment intervals, time to fluid recurrence and adverse events were collected.</p><p><strong>Results: </strong>181 eyes (167 patients; mean age 80.4 ± 8.5 years; 67.7% female) were included, with a median follow-up of 12.9 weeks (range 4.1-48.1). A total of 415 injections were administered (mean 2.1 ± 1.5 per eye). BCVA remained stable (baseline 0.46 ± 0.31 logMAR; post-treatment 0.47 ± 0.37 logMAR; p = 0.18). CRT decreased significantly (-19.5 ± 47.2 μm; p < 0.001), as did PED height (-37.4 ± 68.4 μm; p < 0.001). Intraretinal fluid prevalence decreased from 34.3% to 19.3% (p < 0.001) and subretinal fluid from 53.0% to 33.7% (p < 0.001). The median maximal dry interval achieved was nine weeks, and analysis of interval extension showed a statistically significant mean increase of 1.27 ± 4.24 weeks overall (p = 0.0009), particularly in eyes dry at baseline. The median time to fluid recurrence among those with reactivation was ten weeks. Higher baseline CRT predicted greater CRT reduction (-44.1 μm per 100 μm increase; p < 0.001) but shorter dry intervals. Safety was favourable, with one case (0.6% per eye; 0.2% per injection) of mild anterior uveitis and no cases of intraocular pressure elevation.</p><p><strong>Conclusions: </strong>Switching to aflibercept 8 mg led to stable vision, significant anatomical improvements, extended treatment intervals and a favourable short-term safety profile. Longer follow-up is warranted.</p>","PeriodicalId":6915,"journal":{"name":"Acta Ophthalmologica","volume":" ","pages":""},"PeriodicalIF":2.8,"publicationDate":"2025-09-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145022588","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Davide Romano, Vito Romano, Alejandra Daruich, Giulio Ferrari, Matthieu Robert, Francesco Semeraro, Neil Lagali, Dominique Bremond-Gignac
Congenital aniridia is a rare ocular disorder affecting the majority of eye structures and can be associated with systemic manifestations. The main visible phenotypic characteristic is the partial or complete absence of the iris; however, foveal hypoplasia is a more frequent and reliable clinical sign. Other ocular comorbidities are associated with the disease, such as cataract, keratopathy and optic nerve hypoplasia. Mutation in the PAX6 gene is the most common cause of congenital aniridia, but other causative mutations exist. The main ocular symptoms experienced by those with congenital aniridia are photophobia, glare, low visual acuity, dryness/irritation of the ocular surface and nystagmus. Management and follow-up of patients with congenital aniridia can be challenging due to the lack of effective therapeutic options and the complexity of ocular manifestations and outcomes. These guidelines for the diagnosis, management and care of congenital aniridia have been developed at the European level, thanks to ANIRIDIA-NET, based on a review of the scientific literature on clinical and molecular characterization, therapeutic options as well as non-medical approaches.
{"title":"Congenital aniridia: European COST action ANIRIDIA-NET guidelines for diagnosis, management and care.","authors":"Davide Romano, Vito Romano, Alejandra Daruich, Giulio Ferrari, Matthieu Robert, Francesco Semeraro, Neil Lagali, Dominique Bremond-Gignac","doi":"10.1111/aos.17587","DOIUrl":"https://doi.org/10.1111/aos.17587","url":null,"abstract":"<p><p>Congenital aniridia is a rare ocular disorder affecting the majority of eye structures and can be associated with systemic manifestations. The main visible phenotypic characteristic is the partial or complete absence of the iris; however, foveal hypoplasia is a more frequent and reliable clinical sign. Other ocular comorbidities are associated with the disease, such as cataract, keratopathy and optic nerve hypoplasia. Mutation in the PAX6 gene is the most common cause of congenital aniridia, but other causative mutations exist. The main ocular symptoms experienced by those with congenital aniridia are photophobia, glare, low visual acuity, dryness/irritation of the ocular surface and nystagmus. Management and follow-up of patients with congenital aniridia can be challenging due to the lack of effective therapeutic options and the complexity of ocular manifestations and outcomes. These guidelines for the diagnosis, management and care of congenital aniridia have been developed at the European level, thanks to ANIRIDIA-NET, based on a review of the scientific literature on clinical and molecular characterization, therapeutic options as well as non-medical approaches.</p>","PeriodicalId":6915,"journal":{"name":"Acta Ophthalmologica","volume":" ","pages":""},"PeriodicalIF":2.8,"publicationDate":"2025-09-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144938304","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}